Background: Familial hypercholesterolemia (FH) is an inherited disorder mainly marked by increased low-density lipoprotein cholesterol (LDL-C) concentrations and a heightened risk of early-onset arteriosclerotic cardiovascular disease (ASCVD). This study seeks to characterize the genetic spectrum and genotype‒phenotype correlations of FH in Chinese pediatric individuals.
Methods: Data were gathered from individuals diagnosed with FH either clinically or genetically at multiple hospitals across mainland China from January 2016 to June 2024.
Zhongguo Dang Dai Er Ke Za Zhi
December 2023
A boy, aged 6 years, attended the hospital due to global developmental delay for 6 years and recurrent fever and convulsions for 5 years. The boy was found to have delayed mental and motor development at the age of 3 months and experienced recurrent fever and convulsions since the age of 1 year, with intermittent canker sores and purulent tonsillitis. During the fever period, blood tests showed elevated white blood cell count, C-reactive protein, and erythrocyte sedimentation rate, which returned to normal after the fever subsides.
View Article and Find Full Text PDFThe lithosphere, as the outermost solid layer of our planet, preserves a progressively more fragmentary record of geological events and processes from Earth's history the further back in time one looks. Thus, the evolution of lithospheric thickness and its cascading impacts in Earth's tectonic system are presently unknown. Here, we track the lithospheric thickness history using machine learning based on global lithogeochemical data of basalt.
View Article and Find Full Text PDFSignificance: For research on retinitis pigmentosa in humans, the Royal College of Surgeons (RCS) rat is commonly used as the primary animal model since the disease process is similar. Therefore, it is necessary to understand how the disease develops and determine whether the treatment is effective.
Aim: In this study, structural and microvascular change of retinal degeneration in RCS rats was assessed non-invasively on specific dates over 3.
. Chronic hepatitis B liver fibrosis is an important intermediate link in the development of liver cirrhosis. A retrospective cohort study was conducted in Longhua Hospital affiliated to the Shanghai University of Traditional Chinese Medicine in order to prove whether integrated traditional Chinese and Western medicine could improve the incidence of CHB complications and clinical prognosis.
View Article and Find Full Text PDFSelective dephosphorylation is full of great challenges in the field of biomimetic catalysis. To mimic the active sites of protein phosphatase, Hf-OH-Hf motif-containing metal-organic frameworks (MOFs) were obtained and structurally characterized, which are assembled from [HfNi] cubic nanocages and exhibit good stability in various solvents and acid/base solutions. Catalytic investigations suggest as-synthesized and display accurate type-selectivity (selectively catalyzed P-O rather than S-O or C-O bonds) and position-selectivity (selectively catalyzed phosphomonoesters over phosphodiesters) for the hydrolysis of phosphoesters.
View Article and Find Full Text PDFGlobally, coxsackievirus B4 (CV-B4) has been continuously isolated and evidence suggests an association with the development of pancreatitis and type I diabetes. In addition, CV-B4 is also associated with myocarditis and severe central nervous system (CNS) complications, which remain poorly studied and understood. In the present study, we established an Institute for Cancer Research (ICR) mouse model of CV-B4 infection and examined whether CV-B4 infection resulted in a predisposition to myocarditis and CNS infection.
View Article and Find Full Text PDFWe compared the numbers of nucleotide substitutions occurring in the non-coding regions and coding regions of Ebola virus genomes and found that non-coding regions contain indispensable phylogenetic and evolutionary information. The omission of genetic data from non-coding regions can lead to unreliable phylogenies and inaccurate estimates of evolutionary parameters.
View Article and Find Full Text PDFGuang Pu Xue Yu Guang Pu Fen Xi
June 2014
Reconstructing the spectrum rapidly and accurately is the key to the research on high-fidelity reproduction. A characteristic spectrum extracting and matching method for high-fidelity printing is proposed aiming at the problem of complex conversion between spectrum and ink combination caused by multi-color. The method filters and extracts feature bands of primary ink through derivative spectrum, and a characteristic spectrum multi-threshold coding method is proposed.
View Article and Find Full Text PDFAn air-stable and water-tolerant ortho-metallated complex [Co(tfb)(bpy)(2)](NO(3))·3H(2)O was obtained via hydrothermal synthesis. The mechanism for the formation of Co-C bond was studied using both DFT calculations and experimental analysis. This highly stable complex exhibits good catalytic performance for the selective oxidation of cyclohexane.
View Article and Find Full Text PDFTo clone porcine bone marrow stromal antigen-2 (BST-2) gene, construct its recombinant eukaryotic expression plasmid and induce the expression of the fusion antiviral protein, we amplified BST-2 gene by RT-PCR from the total RNA extracted from PK15 cells. The recombinant expression plasmid pcDNA-BST-2 was constructed and then was transfected into HEK293T cells to expresse the BST-2 fusion protein. Western blot and indirect immunofluorescence assay (IFA) were performed, and the biological activity was detected.
View Article and Find Full Text PDFZhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi
June 2011
A 3D porous hetero-metal compound, which is constructed from the heptanuclear zinc clusters has two types of helical channels, and shows hydrogen adsorption capacity when loaded at 77 K under 0.8 MPa.
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